GCH1

GTP cyclohydrolase 1

Summary

This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008]

Known Variants418 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1712801714:55,308,820A/G—benign
rs88605054214:55,308,828T/C—uncertain significance
rs135732991814:55,308,880T/C—uncertain significance
rs75439538014:55,308,911T/G—uncertain significance
rs55125135314:55,309,016G/A—uncertain significance
rs18503100714:55,309,107T/G—uncertain significance
rs53324061214:55,309,256C/A—likely benign
rs88605054314:55,309,262T/C—uncertain significance
rs203957693714:55,309,441T/C—uncertain significance
rs88605054414:55,309,452T/G—uncertain significance
rs76342511114:55,309,478G/A—uncertain significance
rs5613064714:55,309,505G/A—benign
rs7600996514:55,309,552G/A—benign
rs11321139014:55,309,559G/C—likely benign
rs1015150014:55,309,593C/T—benign
rs54381832314:55,309,605G/C—likely benign
rs5612615814:55,309,613T/A—likely benign
rs99538673514:55,309,677C/T—uncertain significance
rs14396147214:55,309,691C/T—conflicting classifications of pathogenicity
rs54937999314:55,309,693T/C—uncertain significance
rs86722037914:55,309,702G/A—uncertain significance
rs76456962314:55,309,725G/A—conflicting classifications of pathogenicity
rs203958467614:55,309,800T/G—uncertain significance
rs54281147714:55,309,905T/A—conflicting classifications of pathogenicity
rs15017609714:55,309,999T/C—conflicting classifications of pathogenicity
rs4545469114:55,310,003T/C—benign
rs13857835914:55,310,008T/C—conflicting classifications of pathogenicity
rs75909043214:55,310,014T/C—uncertain significance
rs88605054514:55,310,020C/A—uncertain significance
rs99676867714:55,310,040A/T—uncertain significance
rs1013696614:55,310,058C/T—likely benign
rs135015955614:55,310,094C/T—uncertain significance
rs88605054614:55,310,118T/C—uncertain significance
rs55138173814:55,310,123G/A—uncertain significance
rs88605054714:55,310,228G/C—uncertain significance
rs14653699814:55,310,294C/T—uncertain significance
rs88605054814:55,310,368C/T—uncertain significance
rs75658319214:55,310,457G/A—uncertain significance
rs18167447014:55,310,479T/C—likely benign
rs84114:55,310,492G/A3 prime UTR variantbenign
rs89097946014:55,310,538G/A—uncertain significance
rs4129843814:55,310,642C/T—conflicting classifications of pathogenicity
rs75719360914:55,310,701G/A—uncertain significance
rs14311143314:55,310,715G/A—conflicting classifications of pathogenicity
rs19099388314:55,310,723A/G—likely benign
rs155535837914:55,310,735T/G—uncertain significance
rs20125560614:55,310,736C/G—pathogenic
rs250433614014:55,310,737A/G—pathogenic
rs203960041814:55,310,738G/A—uncertain significance
rs74813279214:55,310,740T/A—uncertain significance
rs10489444214:55,310,741C/Gmissense variantpathogenic
rs203960074514:55,310,743T/C—conflicting classifications of pathogenicity
rs98932809814:55,310,751G/A—uncertain significance
rs214003873614:55,310,754A/G—uncertain significance
rs74592990714:55,310,756G/A—likely benign
rs129673135914:55,310,764C/A—pathogenic
rs77573396714:55,310,766C/T—conflicting classifications of pathogenicity
rs137520979114:55,310,767G/A—uncertain significance
rs250433638514:55,310,774T/A—likely benign
rs214003878114:55,310,776G/T—uncertain significance
rs214003878214:55,310,779C/T—uncertain significance
rs250433644414:55,310,783C/G—likely benign
rs155535838014:55,310,784C/T—uncertain significance
rs214003879214:55,310,793C/T—uncertain significance
rs250433649114:55,310,794C/G—uncertain significance
rs91510876214:55,310,797A/G—likely benign
rs214003879814:55,310,799A/G—conflicting classifications of pathogenicity
rs250433653814:55,310,801T/C—likely benign
rs77642631714:55,310,811A/T—uncertain significance
rs214003884014:55,310,812C/G—uncertain significance
rs250433661914:55,310,813A/T—likely benign
rs4129844214:55,310,817T/Cmissense variantpathogenic
rs159496840914:55,310,819G/T—uncertain significance
rs77323214514:55,310,822G/A—uncertain significance
rs250433670414:55,310,824T/A—uncertain significance
rs10489443414:55,310,826A/Gmissense variantpathogenic
rs250433672014:55,310,827T/C—uncertain significance
rs155535838214:55,310,833G/A—pathogenic
rs144303976014:55,310,837A/G—likely benign
rs203960304614:55,310,838C/A—uncertain significance
rs250433680414:55,310,839C/T—uncertain significance
rs203960311814:55,310,841C/G—uncertain significance
rs4129844014:55,310,842G/A—pathogenic
rs214003891814:55,310,844A/G—conflicting classifications of pathogenicity
rs75787206414:55,310,846T/C—likely benign
rs214003892514:55,310,847A/G—uncertain significance
rs250433690814:55,310,853C/T—uncertain significance
rs203960411314:55,310,854A/G—uncertain significance
rs10489444314:55,310,855C/Tmissense variantpathogenic
rs156665882314:55,310,856A/G—likely pathogenic
rs88603937914:55,310,856——pathogenic
rs214003895114:55,310,857T/C—likely pathogenic
rs250433698814:55,310,863T/C—uncertain significance
rs88605054914:55,310,873G/A—uncertain significance
rs125269727714:55,310,880C/A—likely benign
rs5578671014:55,311,024T/C—benign
rs1725357714:55,311,125T/C—benign
rs75268814:55,311,569C/G——
rs77543992314:55,312,466A/G—likely benign
rs74719959014:55,312,468A/T—likely benign

Showing 100 of 418 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.